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Links from MedGen

Items: 1 to 100 of 2185

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr19:13616948
GRCh38:
Chr19:13506134
CACNA1AR31*Episodic ataxia type 2Pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr19:13345768
GRCh38:
Chr19:13234954
CACNA1AR1739P, R1740P, R1742P, R1745PEpisodic ataxia type 2Pathogeniccriteria provided, single submitter
3.
GRCh37:
Chr19:13409430
GRCh38:
Chr19:13298616
CACNA1AR1006L, R1007L, R1010LEpisodic ataxia type 2, Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42,
Spinocerebellar ataxia type 6		Uncertain significance
(Apr 6, 2023)		criteria provided, single submitter
4.
GRCh37:
Chr19:13427995
GRCh38:
Chr19:13317181
CACNA1AV496I, V497IEpisodic ataxia type 2Likely pathogenic
(Oct 14, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr19:13445270
GRCh38:
Chr19:13334456
CACNA1AR374WEpisodic ataxia type 2Uncertain significance
(Aug 16, 2023)		criteria provided, single submitter
6.
GRCh37:
Chr19:13397463
GRCh38:
Chr19:13286649
CACNA1AP1136L, P1137L, P1140LEpisodic ataxia type 2Uncertain significance
(Jan 26, 2023)		criteria provided, single submitter
7.
GRCh37:
Chr19:13616857
GRCh38:
Chr19:13506043
CACNA1AL61PEpisodic ataxia type 2Uncertain significance
(Jan 20, 2023)		criteria provided, single submitter
8.
GRCh37:
Chr19:13616836
GRCh38:
Chr19:13506022
CACNA1AR68LEpisodic ataxia type 2Likely pathogenic
(Apr 14, 2023)		criteria provided, single submitter
9.
GRCh37:
Chr19:13373645-13373646
GRCh38:
Chr19:13262831-13262832
CACNA1AEpisodic ataxia type 2Pathogenic
(Mar 10, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr19:13418596-13419188
CACNA1ADevelopmental and epileptic encephalopathy, 42, Migraine, familial hemiplegic, 1, Episodic ataxia type 2,
Spinocerebellar ataxia type 6		not providedno assertion provided
11.
GRCh37:
Chr19:13325051
GRCh38:
Chr19:13214237
CACNA1AE1979A, E1980A, E1982A, E1985ADevelopmental and epileptic encephalopathy, 42, Migraine, familial hemiplegic, 1, Episodic ataxia type 2,
Spinocerebellar ataxia type 6		not providedno assertion provided
12.
GRCh37:
Chr19:13414587
GRCh38:
Chr19:13303773
CACNA1AG700R, G701REpisodic ataxia type 2Likely pathogenic
(Jan 7, 2021)		criteria provided, single submitter
13.
GRCh37:
Chr19:13443701
GRCh38:
Chr19:13332887
CACNA1AQ413*Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1, Episodic ataxia type 2
not providedno assertion provided
14.
GRCh37:
Chr19:13341014
GRCh38:
Chr19:13230200
CACNA1AL1804F, L1805F, L1807F, L1810FSpinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1, Episodic ataxia type 2
not providedno assertion provided
15.
GRCh37:
Chr19:13446507-13446665
GRCh38:
Chr19:13335693-13335851
CACNA1A, LOC126862866Episodic ataxia type 2Likely pathogenic
(Mar 10, 2023)		criteria provided, single submitter
16.
GRCh37:
Chr19:13409362
GRCh38:
Chr19:13298548
CACNA1AR1029G, R1030G, R1033Gnot provided, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42		Uncertain significance
(Feb 1, 2023)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr19:13322949
GRCh38:
Chr19:13212135
CACNA1AA2091T, A2092T, A2094T, A2097TDevelopmental and epileptic encephalopathy, 42, Migraine, familial hemiplegic, 1, Episodic ataxia type 2,
Spinocerebellar ataxia type 6		Uncertain significance
(Mar 30, 2021)		criteria provided, single submitter
18.
GRCh37:
Chr19:13394172
GRCh38:
Chr19:13283358
CACNA1AY1244C, Y1245C, Y1248Cnot provided, Episodic ataxia type 2Conflicting interpretations of pathogenicity
(Mar 28, 2023)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr19:13363864
GRCh38:
Chr19:13253050
CACNA1AV1603F, V1604F, V1607FEpisodic ataxia type 2Uncertain significance
(Sep 29, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr19:13476242
GRCh38:
Chr19:13365428
CACNA1AP225SEpisodic ataxia type 2Uncertain significance
(Nov 7, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr19:13318860-13363935
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(Apr 22, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr19:13372244-13373667
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(Sep 23, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr19:13135448-13419362
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Malan overgrowth syndrome,
Marshall-Smith syndrome		Uncertain significance
(Apr 14, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr19:13339493-13341043
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Pathogenic
(May 16, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr19:13339493-13373667
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Pathogenic
(Oct 26, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr19:13418576-13419362
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Pathogenic
(Jul 15, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr19:13476111-13476303
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Pathogenic
(May 20, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr19:13342504-13342694
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Pathogenic
(Mar 4, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr19:13355976-13356099
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(Aug 15, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr19:10828919-13482613
HOOK2, TRMT1, TSPAN16, JUNB, KANK2, KLF1, RGL3, RNASEH2A, RTBDN, IER2, TMED1, TMEM205, TNPO2, TRIR, ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878
Deficiency of alpha-mannosidase, Charcot-Marie-Tooth disease dominant intermediate B, Glutaric aciduria, type 1,
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42		Uncertain significance
(Aug 6, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr19:13319698
GRCh38:
Chr19:13208884
CACNA1AH2218Y, H2219Y, H2221Y, H2224YEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(Sep 28, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr19:13423599
GRCh38:
Chr19:13312785
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Aug 1, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr19:13418631
GRCh38:
Chr19:13307817
CACNA1AD651N, D652NEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(Oct 12, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr19:13409853
GRCh38:
Chr19:13299039
CACNA1AH865L, H866L, H869LEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Jul 21, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr19:13346014
GRCh38:
Chr19:13235200
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Jul 29, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr19:13386675
GRCh38:
Chr19:13275861
CACNA1A, LOC126862865Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Aug 15, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr19:13565936
GRCh38:
Chr19:13455122
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2, not provided
Likely benign
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr19:13319751-13319752
GRCh38:
Chr19:13208937-13208938
CACNA1ADevelopmental and epileptic encephalopathy, 42, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Inborn genetic diseases		Uncertain significance
(Nov 12, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr19:13319747
GRCh38:
Chr19:13208933
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jan 26, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr19:13409555
GRCh38:
Chr19:13298741
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Benign
(Apr 28, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr19:13414710
GRCh38:
Chr19:13303896
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jan 28, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr19:13397457
GRCh38:
Chr19:13286643
CACNA1AK1139M, K1142M, K1138MDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(Apr 1, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr19:13443720
GRCh38:
Chr19:13332906
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Aug 29, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr19:13419349
GRCh38:
Chr19:13308535
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jul 17, 2022)		criteria provided, single submitter
45.
GRCh37:
Chr19:13445231
GRCh38:
Chr19:13334417
CACNA1AR387CDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(Oct 11, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr19:13341041
GRCh38:
Chr19:13230227
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jul 13, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr19:13373651
GRCh38:
Chr19:13262837
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Mar 11, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr19:13323495
GRCh38:
Chr19:13212681
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Aug 21, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr19:13325360
GRCh38:
Chr19:13214546
CACNA1AN1938D, N1932D, N1933D, N1935DDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(Mar 26, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr19:13428143
GRCh38:
Chr19:13317329
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Sep 22, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr19:13372249
GRCh38:
Chr19:13261435
CACNA1A, LOC126862864Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(May 4, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr19:13325039
GRCh38:
Chr19:13214225
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Sep 6, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr19:13482493
GRCh38:
Chr19:13371679
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Aug 9, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr19:13319680
GRCh38:
Chr19:13208866
CACNA1AD2225N, D2227N, D2230N, D2224NDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(Dec 7, 2021)		criteria provided, single submitter
55.
GRCh37:
Chr19:13565983
GRCh38:
Chr19:13455169
CACNA1AI113FDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(Aug 15, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr19:13320228
GRCh38:
Chr19:13209414
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jun 3, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr19:13482515
GRCh38:
Chr19:13371701
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(May 13, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr19:13368145
GRCh38:
Chr19:13257331
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jun 27, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr19:13482487
GRCh38:
Chr19:13371673
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(May 7, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr19:13366080-13366081
GRCh38:
Chr19:13255266-13255267
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Apr 7, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr19:13419213
GRCh38:
Chr19:13308399
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Apr 11, 2022)		criteria provided, single submitter
62.
GRCh37:
Chr19:13325421
GRCh38:
Chr19:13214607
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Oct 18, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr19:13428108
GRCh38:
Chr19:13317294
CACNA1AK458I, K459IDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(Feb 12, 2022)		criteria provided, single submitter
64.
GRCh37:
Chr19:13319834
GRCh38:
Chr19:13209020
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Oct 23, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr19:13319614-13319615
GRCh38:
Chr19:13208800-13208801
CACNA1A, LOC130063717Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(Aug 28, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr19:13322905
GRCh38:
Chr19:13212091
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Sep 6, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr19:13397762
GRCh38:
Chr19:13286948
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Feb 15, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr19:13423470
GRCh38:
Chr19:13312656
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jul 26, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr19:13373587
GRCh38:
Chr19:13262773
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Sep 7, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr19:13320191
GRCh38:
Chr19:13209377
CACNA1AR2155Q, R2154Q, R2160Q, R2157QDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jul 24, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr19:13419050
GRCh38:
Chr19:13308236
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Oct 21, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr19:13342618
GRCh38:
Chr19:13231804
CACNA1AP1770L, P1769L, P1772L, P1775LDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jul 13, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr19:13397357
GRCh38:
Chr19:13286543
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Sep 27, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr19:13410120
GRCh38:
Chr19:13299306
CACNA1AQ776R, Q777R, Q780RDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(Jul 1, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr19:13409780
GRCh38:
Chr19:13298966
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Jul 28, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr19:13335512
GRCh38:
Chr19:13224698
CACNA1AI1901M, I1903M, I1906M, I1900MDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(Aug 23, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr19:13394147
GRCh38:
Chr19:13283333
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Oct 13, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr19:13365926
GRCh38:
Chr19:13255112
CACNA1AI1584V, I1581V, I1580VDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2, not provided
Uncertain significance
(Mar 28, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr19:13370367
GRCh38:
Chr19:13259553
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Jun 27, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr19:13342617
GRCh38:
Chr19:13231803
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Jul 15, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr19:13373667
GRCh38:
Chr19:13262853
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Jul 5, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr19:13616929
GRCh38:
Chr19:13506115
CACNA1AR37QEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(Feb 14, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr19:13363930
GRCh38:
Chr19:13253116
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(May 29, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr19:13387912
GRCh38:
Chr19:13277098
CACNA1AG1285S, G1286S, G1289SEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(Oct 3, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr19:13335563
GRCh38:
Chr19:13224749
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Oct 17, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr19:13409642
GRCh38:
Chr19:13298828
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(May 7, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr19:13563844
GRCh38:
Chr19:13453030
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Oct 13, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr19:13445302
GRCh38:
Chr19:13334488
CACNA1AF363SEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Pathogenic
(Jul 12, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr19:13396037
GRCh38:
Chr19:13285223
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Aug 30, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr19:13363922
GRCh38:
Chr19:13253108
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(Sep 22, 2022)		criteria provided, single submitter
91.
GRCh37:
Chr19:13409991
GRCh38:
Chr19:13299177
CACNA1AL819S, L820S, L823SEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(May 8, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr19:13325431
GRCh38:
Chr19:13214617
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(May 8, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr19:13418933
GRCh38:
Chr19:13308119
CACNA1AEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely pathogenic
(May 7, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr19:13476257
GRCh38:
Chr19:13365443
CACNA1AM220VEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(May 7, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr19:13397340
GRCh38:
Chr19:13286526
CACNA1AP1177H, P1178H, P1181HEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Likely benign
(May 4, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr19:13445251
GRCh38:
Chr19:13334437
CACNA1AR380KEpisodic ataxia type 2, Developmental and epileptic encephalopathy, 42Uncertain significance
(May 4, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr19:13386786
GRCh38:
Chr19:13275972
CACNA1A, LOC126862865Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Nov 1, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr19:13325126
GRCh38:
Chr19:13214312
CACNA1AK1957R, K1960R, K1954R, K1955RDevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Uncertain significance
(May 3, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr19:13372253
GRCh38:
Chr19:13261439
CACNA1A, LOC126862864Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Aug 31, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr19:13321418
GRCh38:
Chr19:13210604
CACNA1ADevelopmental and epileptic encephalopathy, 42, Episodic ataxia type 2Likely benign
(Apr 26, 2022)		criteria provided, single submitter
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